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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

Myers, AJ; Pittman, AM; Zhao, AS; Rohrer, K; Kaleem, M; Marlowe, L; Lees, A; ... Hardy, J; + view all (2007) The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. NEUROBIOL DIS , 25 (3) 561 - 570. 10.1016/j.nbd.2006.10.018.

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Abstract

Previously we have shown that the H1c haplotype on the background of the HI clade of haplotypes at the MAPT locus is associated with increased risk for progressive supranuclear palsy (PSP), corticobasal degeneration (CBD) and Alzheimer's disease (AD). Here we replicated the association with AD in an additional autopsy confirmed series. We show that this haplotype increases both the expression of total MAPT transcript as well as specifically increasing the proportion of 4 microtubule binding repeat containing transcripts. We discuss these findings both in terms of the problems facing the dissection of the etiologies of complex traits and the pathogenesis of the tauopathies.

Type: Article
Title: The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts
DOI: 10.1016/j.nbd.2006.10.018
Keywords: PROGRESSIVE SUPRANUCLEAR PALSY, CORTICOBASAL DEGENERATION, FRONTOTEMPORAL DEMENTIA, ALZHEIMERS-DISEASE, PROMOTER REGION, GENE, FTDP-17
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/176339
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